Canonical Allele Identifier: CA10638430
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 320645
ClinVar RCV Id: RCV000376362
dbSNP Id: rs12929567
gnomAD v2: 16-81348608-G-A
gnomAD v3: 16-81315003-G-A
gnomAD v4: 16-81315003-G-A
MyVariant Identifiers: chr16:g.81348608G>A (hg19) chr16:g.81315003G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315003G>A , CM000678.2:g.81315003G>A GRCh38
NC_000016.9:g.81348608G>A , CM000678.1:g.81348608G>A GRCh37
NC_000016.8:g.79906109G>A NCBI36
NG_009007.1:g.5038G>A , LRG_242:g.5038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.-111G>A ENSP00000498114.1:n.-111G>A
ENST00000648994.2:c.-111G>A MANE Select ENSP00000497351.1:n.-111G>A
ENST00000674788.1:n.15G>A
ENST00000568107.2:c.-111G>A ENSP00000476795.1:n.-111G>A
NM_022041.3:c.-111G>A , LRG_242t1:c.-111G>A NP_071324.1:n.-111G>A
XM_017023734.1:c.-635G>A XP_016879223.1:n.-635G>A
NM_001377486.1:c.-635G>A NP_001364415.1:n.-635G>A
NM_022041.4:c.-111G>A MANE Select NP_071324.1:n.-111G>A
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